A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243776



Internal ID22375668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144724023..144738484hg38UCSC Ensembl
Outerchr8:145949408..145963869hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279985
SamplesNA19238
Known GenesZNF251
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243776
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer